Varaico: Literature-Extracted Genetic Variants

Gene:DCAF7
Variant:p.C280Y
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DCAF7

NM_005828.5:p.C280Y

Associated Papers

De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.

Shang L et al.

Neurogenetics, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."